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Article

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.

Genetics and molecular research : GMR - 18 Jan 2011

Valadares E R, Trindade A L C, Oliveira L R, Arantes R R, Daker M V, Viana B M, Haase V G, Jardim L B, Lopes G C, Godard A L B

Abstract excerpt

Adrenoleukodystrophy is a neurodegenerative X-linked recessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison's disease). It is caused by a mutation...

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Source

Identifiers

PMID: 21264817
DOI: 10.4238/vol10-1gmr975

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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